ROADMAP epigenomics

ROADMAP epigenomics provides a reference collection of 111 human epigenomes profiled in primary cells and tissues for histone modification patterns, chromatin accessibility, DNA methylation, and mRNA expression to support analysis of gene regulation, cellular differentiation, and disease-associated regulatory variation.

Key Features:

• Extensive Epigenomic Data Collection: A reference set of 111 human epigenomes derived from primary cells and tissues profiled for histone modifications, chromatin accessibility, DNA methylation, and mRNA expression.
• Global Regulatory Maps: Genome-wide maps of regulatory elements across cell types with identification of regulatory modules characterized by coordinated activity and their associated activators and repressors.
• Integration with Genetic Variants: Enrichment analysis showing disease- and trait-associated genetic variants localize within tissue-specific epigenomic marks to identify biologically relevant cell types for human traits.
• Reference Epigenome Resource: A standardized collection of human epigenomes serving as a baseline resource for epigenomic studies complementary to genetic variation datasets.
• Integrative Multi-layer Profiling: Integrative analysis of multiple epigenetic layers to provide a multi-dimensional view of the epigenomic landscape across diverse tissues and cell types.

Scientific Applications:

• Gene Regulation Studies: Analysis of how histone modifications, chromatin accessibility, DNA methylation, and mRNA expression relate to transcriptional regulation across cell types.
• Cellular Differentiation Research: Investigation of epigenomic changes occurring during cellular differentiation to inform developmental biology.
• Disease Mechanism Elucidation: Linking genetic variants to specific epigenomic marks to uncover potential mechanisms underlying diseases and traits.

Methodology:

Integrative analysis profiling multiple epigenetic layers (histone modifications, chromatin accessibility, DNA methylation, and mRNA expression) across diverse primary human cell types and tissues.